How Thalassemia, is a Preventable Genetic Blood Disorder…..?

Thalassemia affects more than 400,000 new-borns every year worldwide. In India it is estimated that about 10000-15000 are born every year with thalassemia. It is most prevalent across the country with an average carrier frequency of 3-4%., In fact, India is considered to be the capital of thalassemia. It is predicted that in the next 20 years, about 900,000 patients with thalassemia will be born in the world, with 95% of them being in Asia especially in India and Middle East.

Thalassemia is an inherited blood disorder that results due to a lack of synthesis of haemoglobin molecules or defective haemoglobin respectively. There are different types of thalassemia of which beta thalassemia is the most severe form also known as “cooley’s anemia”. It causes devastating impact on the health of patients and finances of their families as the patients require lifelong blood transfusions and extensive medical care. It causes
mental trauma to the parents as they have to see their children being pricked with needles frequently. Without treatment, their spleen and liver become enlarged and are prone to infections and heart failure which are the leading cause of death among children. Another major complication in these patients is iron overload which results due to regular blood transfusions given to maintain the hemoglobin levels in order to sustain their life.

The cost of ideal treatment for one thalassemia child is nearly Rs. 1, 25,000 to 2, 00,000 per annum including cost of blood transfusions, transfusion pump, leucocyte filters, blood test, hemograms, serum ferritin, liver and thyroid function tests, viral testing, chelation therapy with deferoxamine or deferiprone or deferasirox and hepatitis B and pneumococcal vaccines. 

This cost is beyond the reach of many parents leading to financial constraints. Moreover, bone marrow transplantation (BMT) is the only radical cure for thalassemia but it requires a Human Leukocyte Antigen (HLA) matched donor. It is expensive and not affordable by many of them. Therefore, attempt to prevent and control thalassemia in the community deserves a high priority.

Due to lack of awareness or ignorance about thalassemia among the public and healthcare, patients are diagnosed late and their haemoglobin levels drop drastically and their spleen is enlarged. They are misdiagnosed as iron deficiency anemia and are put on iron supplements due to which iron overload is seen. Majority of the children born with thalassemia in India die undiagnosed or due to lack of proper treatment. Many of the couples end up in consanguineous marriage unknown of the fact that thalassemia gene is segregated in their families thereby contributing to increase in the number of children being born with the 

disease. So, as the adage says “Prevention is better than cure” it is the need of the hour that all the thalassemia children, their parents, NGO’s, government and people from all walks of life to join hands to make the world Thalassemia Free.

The only way to reduce the incidence of thalassemia in the population is creating extensive awareness among the public and healthcare about thalassemia, its symptoms, diagnosis and treatment. Awareness has to be created among the public about a simple blood test-HbA2 for detecting the carrier status of thalassemia before marriage or during pregnancy that can save a life from the lifelong suffering of thalassemia. Gynaecologists can be very useful and effective in creating awareness and preventing thalassemia. Thalassemia carrier test can be included in routine check-up of pregnant women. School textbooks can have a chapter on thalassemia. Advertisements, short films, vlogs on Youtube can be hosted to educate the
masses. Posters and hoarding of thalassemia children with strong messages can put up at hospitals, railway stations, airports, shopping complexes to create awareness.

Authored by: Dr. Suman Jain, Chief Medical Research officer and Secretary, TSCS & Dr. Padma G, Research Scientist, TSCS